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Enhanced Gene-Disease Association and Carrier Screening by Homozygous Mutation Carriers: A Study of Genotypes and Clinical Phenotypes in 17 IRD Families with Homozygous Mutations in Northern China

2024-10-02

Abstract excerpt

<title>Abstract</title> <p>In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through whole genome exon sequencing (WES) and Sanger verification, 17 probands carrying homozygous mutations were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed. Amo...

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Literature Corpus work: 8f68bc42-a5c5-5256-bfe7-af3185849a31
DOI: 10.21203/rs.3.rs-4776885/v1

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Enhanced Gene-Disease Association and Carrier Screening by Homozygous Mutation Carriers: A Study of Genotypes and Clinical Phenotypes in 17 IRD Families with Homozygous Mutations in Northern ChinaDOI 10.21203/rs.3.rs-4776885/v1Read

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